Canonical Allele Identifier: CA394185375

Gene: CLCN7

Linked Data

• gnomAD v4: 16-1447074-G-A
• COSMIC: COSM4623241
• MyVariant Identifiers: chr16:g.1497075G>A (hg19) ; chr16:g.1447074G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1447074G>A , CM000678.2:g.1447074G>A	GRCh38
NC_000016.9:g.1497075G>A , CM000678.1:g.1497075G>A	GRCh37
NC_000016.8:g.1437076G>A	NCBI36
NG_007567.1:g.33011C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000699947.1:c.2263C>T	ENSP00000514703.1:p.Pro755Ser
ENST00000699948.1:c.*576C>T	ENSP00000514704.1:n.*576C>T
ENST00000382745.9:c.2263C>T MANE Select	ENSP00000372193.4:p.Pro755Ser
ENST00000262318.12:c.2192C>T	ENSP00000262318.8:p.Pro731Leu
ENST00000382745.8:c.2263C>T	ENSP00000372193.4:p.Pro755Ser
ENST00000448525.5:c.2191C>T	ENSP00000410907.1:p.Pro731Ser
ENST00000563642.6:n.2332C>T
ENST00000565092.6:n.1298C>T
ENST00000567836.2:n.504C>T
NM_001114331.2:c.2191C>T	NP_001107803.1:p.Pro731Ser
NM_001287.5:c.2263C>T	NP_001278.1:p.Pro755Ser
XM_011522354.1:c.2089C>T	XP_011520656.1:p.Pro697Ser
NM_001287.6:c.2263C>T MANE Select	NP_001278.1:p.Pro755Ser
NM_001114331.3:c.2191C>T	NP_001107803.1:p.Pro731Ser